The psychosocial impact of a chronic disease in Ireland: Burdens and helpful practices for a life with epidermolysis bullosa

Abstract Objective Although Ireland has one of the highest levels of well‐being in Europe, having a health condition has been found to have a direct negative impact. The aim of this study is to evaluate the current situation and the experiences of patients with epidermolysis bullosa (EB), a rare genetic skin disease, and their relatives living in Ireland, with a focus on burdens and helpful practices. Methods and Measures In a mixed‐methods design, a series of standardised questionnaires were combined with open‐ended questions. Via an online survey, data from n = 59 EB patients and relatives of EB patients living in Ireland were collected. Results EB affects both the patients and their relatives. Burdens were found in relation to the visibility of EB, the degree of severity, the current health status, reduced mobility, the financial impact of EB, the psychosocial impact and personal and social resources. The paper also analyses existing resources and highlights opportunities for support and needs of improvement. Conclusion Quality of life with EB is influenced by somatic symptoms and the psychosocial burden. Individual helpful practices in dealing with this rare disease can be considered as mediators, but they need to be supported by structural and healthcare improvements. Patient or Public Contribution The perspective of EB patients, their relatives and EB experts were taken into account in the development of the study design via two feedback loops with the EB patient organisations DEBRA Ireland and DEBRA Austria. The design was adapted accordingly. Additionally, by including open‐ended questions, patients and relatives could contribute their individual perspectives and add insights into their lives with EB that might not have been captured with the structured online survey alone.

by this rare disorder.Regarding the prevalence of EB in Ireland, one in 18,000 children is born with EB and around 200-300 families are affected by EB. [18][19][20] According to the European Social Survey, Ireland has one of the highest levels of well-being in Europe among 26 countries.Yet, people with a health condition had a significant decrease in their well-being. 21There is still a serious demand for research into the needs of Irish patients and their families, especially in the case of rare diseases. 22So far, previous EB studies conducted in Ireland primarily focussed on establishing, maintaining and improving a supportive health care system * and the quality of care. 19,23,24However, the psychosocial intra-and interindividual impact of EB on affected individuals and their families has not been adequately studied with a focus on the Irish population.
The aim of the current study is to analyse public health practices in Ireland and to identify the burdens of Irish EB patients and their families and helpful practices and resources in managing this disease.

| Recruitment and design
The study participants for this online survey were recruited in collaboration with the patient organisation DEBRA Ireland and DEBRA International.The study inclusion criteria were a diagnosis of EB or being a relative of a person living with EB, a minimum age of 14 years and fluency in English.Informed consent or assent was obtained from all participating patients or legal guardians of underage patients, respectively.The study design builds upon a previous qualitative study by the same research group on life with EB.In two feedback loops with the EB patient organisations DEBRA Ireland and DEBRA Austria, patients', relatives' and experts' experiences were included in the study and the design adapted accordingly.
The survey took place between April and September 2021 and consisted of sociodemographic questions, a series of standardised questionnaires and additional open-ended questions.6][27] The quality of life of the patients was evaluated by the Quality of Life in Epidermolysis Bullosa (QOLEB) 28,29 and of the family members by the Epidermolysis Bullosa Burden of Disease (EB-BoD). 30The Resources for Life with an Illness for Epidermolysis Bullosa (ResILL-EB) questionnaire assesses burdens, satisfaction, resources and helpful practices. 31Furthermore, three questionnaires for the elicitation of different aspects of resilience were used, namely the Satisfaction with Life Scale (SWL-5), 32,33 the Perceived Social Support Questionnaire (F-SozU) 34,35 and the Brief Resilience Scale (BRS). 36,37Participants also completed open-ended questions regarding further burdens and helpful practices, additional support and their stress management.
With the exception of the sociodemographic questions on EB and the current state of health, the relatives were asked to answer all questions referring to their own situation.To take into account the unpredictability of EB and to reduce drop-outs for health reasons, the option was offered to pause the questionnaire for a maximum of 7 days and continue at a later date.

| Data analysis
As a first step, the requirements for the appropriate statistical tests were investigated, the dependent variables were inspected by the use of histograms, scatterplots and Kolmogorov-Smirnov tests, skewness and kurtosis statistics were computed.To describe the sample, crosstabs, frequencies, percentages, means, medians, interquartile range and standard deviations were *For readers who are not familiar with the Irish healthcare system and its services for people with EB, we recommend the lecture of Kearney et al. 23 and Gowran et al. 24  Concerning the open-ended questions, answers were coded and analysed on the basis of a structured coding system, in accordance with the recommendations given by the Reflexive Thematic Analysis methodology. 38,39Coding was carried out using MAXQDA software, version 2022, enabling automated quantification of code occurrence.
Topics frequently mentioned in the qualitative data were further investigated by explorative quantitative comparison of contentrelated single items of a scale concerning the given topic (e.g., item 'mood' of the iscorEB).

| Sample characteristics
A total of 59 participants, 28 EB patients and 31 family members of EB patients took part in the online survey.Regarding the gender of the participants, the vast majority were women (76.3%).The average age of the patients was 38.89 (±12.23)years, while the mean of the family members was 47.55 (±12.99)years.The average age of their relatives' person with EB was 18.32 (±18.95).The majority of the participants lived in or close to a city (59.6%) and were native English speakers (78.0%), the remaining participants stated that their level of English was very good to good.
Regarding the different types of EB, almost two-thirds of all participants were either diagnosed with or had a relative with EBS (64.4%), followed by DEB (30.5%, whereof 15.3% had RDEB and 13.6% had DDEB) and JEB (5.1%).The degree of severity (mild: 40.7%; moderate: 37.3%; severe: 22.0%; see Table A1) and visibility (not: 16.9%; rather not: 20.3%; somewhat: 35.6%; very: 27.1%) was well distributed.At the time point of the survey, 39.3% of participants indicated an acute challenging phase with regard to EB, and three stated that they or their relatives were in the palliative phase (5.1%).With regard to the most commonly affected body parts, the vast majority reported EB symptoms on the feet (85.7%) and hands (75.0%), followed by the legs (39.3%) and the arms (25.0%).A high percentage of the participants stated that the mobility was reduced due to the legs/feet (61.0%) and/or hands (30.5%).In total, 8.5% of the EB patients used a walking aid or wheelchair and 3.4% a grip aid.Overall, the rate of missing data in the survey was 3.4%.An overview of the sample characteristics can be found in Table 1.

| Aspects influencing life with EB
To capture the full diversity of living conditions with EB, the subsequent calculations were performed for the subgroups of patients and relatives separately and thereafter for the combined data set.To be able to cover the broad spectrum of psychosocial effects of EB in this paper, only significant results are presented.
Table 2 provides a correlation matrix between the questionnaires.A group comparison matrix of all categories' medians can be found in the additional material (Table A2).

| Patients
Regarding the degree of severity, patients who rated their EB as mild had significantly more resources available than those with a moderate degree of severity (U = 44.50,z = −2.23,p = .026).

| Relatives
In contrast to the patients subgroup, relatives reported that their person with EB had a higher degree of severity and more medical symptoms as assessed via iscorEB.With a high degree of severity, relatives reported to have a higher burden and a lower quality of life.
There were significant differences between mild and severe EB cases with regard to the ResILL-EB Burden scale (H(2) = 11.09,p = .004)and their quality of life of the relatives differed significantly between all three severity cases (EB-BoD: H(2) = 9.95, p = .007).Similarly, with a high reduction in mobility of the person with EB, relatives reported a significantly lower quality of life (U = 138.00,z = 2.78, p = .005).
Moreover, women reported more burdens and had a lower quality of life than men.Significant differences between female and male participants were found in the ResILL-EB Burden scale (U = 27.00,z = −2.19,p = .029)and the EB-BoD (U = 14.00, z = 2.51, p = .012).

| All participants
With regard to all participants, the results show that gender has an important influence on the perceived overall burden, as measured by the ResILL-EB Burden scale.Female participants indicated a significantly higher burden than male (U = 182.00,z = −2.03,p = .042).Patients and relatives who reported reduced mobility due to affected legs/feet and/or hands were more burdened than those who were not restricted (U = 468.50,t = 3.49, p < .001),and the same applies to participants who rated their or their relative's EB as very visible (H(3) = 8.02, p = .046).In addition, Table 2 shows that a higher level of stress correlates significantly with a poorer health status, a lower quality of life, less satisfaction and fewer resources.
Patients and relatives reporting a higher degree of severity tended to report more EB symptoms, more burdens associated with EB and fewer resources to deal with the disease.Significant differences were Regarding the current health status as assessed by the iscorEB, several significant group differences were found.EB patients who were in an acute challenging phase at the time point of the survey scored significantly higher on the iscorEB scale than those who were not (U = 452.50,z = 2.21, p = .027).Moreover, participants who stated that their or their relative's EB was not or hardly visible reported fewer EB symptoms than those with somewhat to very visible EB (U = 508.50,z = 2.03, p = .043).
The qualitative data underline the emotional impact regarding the visibility of EB for patients and for their families.The unpleasant reactions from the social environment as well as, for parents, the fear of being perceived as a bad parent evoke feelings of shame and are described as especially burdening.
The stares from other people, getting it into your own head that these people think that they were harmed by you or why they have these wounds.(1922, Pos. 2) The ignorance of some people, looking at me thinking I am not a good mother because of how my darling girl looks.Though it breaks my heart, but I know she is all I will ever need/want in my life.(2543, Pos. 2) However, not having visible wounds and blisters is also perceived as burdensome: No-one outside the family understands their pain as theirs is a hidden disability.( 2306 With reduced mobility, walking distances must be carefully evaluated and, depending on respective distances, affected individuals cannot participate in social activities.The constant necessity of planning ahead can be seen as an additional burden in itself.The struggles accompanying reduced mobility influence almost every aspect of daily life, e.g.grocery shopping, and can compromise the participants' autonomy and job opportunities. How to avoid getting blisters on hands and feet for me and my kids.We would all love to travel (walk) and play sport, especially during the summer.
(1869, Pos. I have to drive everywhere as walking to/from public transport is not an option, but finding parking is a real difficulty at times and I avoid many places, events and social outings as a result.(2562, Pos.T A B L E 2 Cross-correlation matrix of the questionnaires.The accumulation of multiple stressors can be overwhelming, both for the patients and for their relatives, and may cumulate to a breakdown-like feeling, which is linked to physical and mental exhaustion.The participants mostly refer to the following ways of dealing with it: either to acknowledge the given situation and to 'give in and go with it' (2788, Pos.4), or by various ways of distraction as well as by (temporary) social isolation.
It could never be too much.We had to be ready 24/7.Thereafter, the ratio of high and low service use frequency and contentment was calculated.High contentment often comes along with high frequency of service use (61.62%), whereas low contentment is equally distributed between high (21.70%)and low (21.54%)frequency of service use.Only a small percentage (12.14%)shows high contentment with low frequency of service use (Table 3).

| DISCUSSION
The aim of the current study was to evaluate burdens and helpful practices for a life with EB in Ireland.
Considering that EB is a rare disease and that in Ireland approximately 200-300 families are affected by this condition, 19,20 the total sample size of 59 study participants can be considered as highly representative.With an average age of 43.44 years, the study sample included participants from 17 to 76 years.The situation of younger children with EB was reflected through parental report by the relatives.Even though we invited all relatives to participate in our survey, the vast majority were parents of patients, leading to a higher representation of their situation with EB.
The rationale for not comparing the patient and the relatives groups, but instead analysing them jointly was mostly based on the unequal distribution of EB types as well as the severity within the two subsamples.The observed group differences can be explained by relatives being more likely to fill in the survey for their severely affected family member with EB who might not be able or have the resources to do so themselves, which might lead to some proxy report bias.Yet, this may also be a reflection of the reduced hand mobility, reported by 35% of the participants, which can occur in various EB subtypes.Future research could differentiate the identified factors by EB types.
Although there are no reported gender differences with regard to the prevalence of EB, 40 a high percentage of women participated in the study.One possible explanation could be that women are, in general, more interested in taking part in surveys. 41Despite the unequal gender distribution, there were statistically significant differences with regard to burdens in the total sample.Women tend to report a higher burden due to EB.Both the higher participation and the higher burden of the female participants might be related to the fact that women mostly take over the role of the primary carer. 17,42 our survey, the degree of severity as well as the visibility of EB were evaluated by the ratings from EB patients and relatives.Patients who were in an acute challenging phase and whose EB was very visible reported more medical symptoms, and were more burdened and less satisfied, which in turn affects their psychological well-being and might put stress on the whole family. 17Although these ratings might be subjective, patients and people close to them should be considered as experts of their own or their relative's health. 43Our results show that those self-reported measures are statistically relevant and related to the individually perceived burden: the higher the self-reported degree of severity, the more medical symptoms, more burdens and fewer resources.This underlines the importance of the degree of severity as an addition to the widely used comparison of EB types, which can vary greatly within the different subtypes.
Therefore, we suggest for future studies to replicate and further investigate the use of a self-reported degree of severity of EB when assessing the current physical and psychological health status of a patient.
With regard to the visibility of EB, a negative emotional impact was reported in the qualitative as well as in the quantitative data.This reflects the earlier findings describing several stigmata associated with the visibility of EB. 12,44 Nevertheless, the invisibility was also described as a burden in the qualitative data, which can provoke a lack of understanding of the illness and its impact on the everyday life. 45EB patients and relatives with higher visibility, as well as female relatives, show a greater number of different helpful practices.This may be due to the higher burden on these groups.
While participants with a reduced mobility indicated to have more medical symptoms, a higher burden and less perceived satisfaction, they reported to have significantly more social support available compared to those without mobility restrictions.This could be related to the fact that help is needed in more situations, which leads to more social support. 46,47However, reduced mobility can influence the frequency of participation in social activities and is described as a burden due to the constant necessity of planning ahead.As previously reported, reduced mobility can lead to restrictions in travelling, social events and leisure time activities and thus to a lower quality of life. 48The degree of severity of EB is again a contributing factor in this result.This also applies to relatives, who reported a lower quality of life due to reduced mobility of their family member with EB.
The financial burden related to EB has been previously reported and became also apparent in the current study. 18,49Depending on the EB type, the expenses for medication, bandages and dressings are fully or partly covered by the Irish health care system. 19Our data show the necessity for improvement in this regard: 54% and 57% of the participants, and especially the ones with milder EB types, indicate that neither their bandages and medicines nor adequate medical care are fully covered financially.Nonetheless, additional costs may arise, for example, for special clothing for the patients, and put additional burden on many EB families.DEBRA Ireland supports families with these issues, and the high contentment with their support is reflected in the data.Nevertheless, there is still a need for improvement in this context with regard to the public health system.
In particular, the accumulation of multiple stressors related to the psychosocial impact of EB was described as overwhelming.The most common compensatory mechanisms are acceptance, adaptation to the given situation or distraction.Emotions have a high impact on the general well-being: participants who were more burdened by their feelings were significantly less satisfied with life and ranked their resources as worse.
Personal and social resources have the potential to function as a moderating factor between health-related burdens and quality of life, 50 which is also reflected in our data.Overall, the contentment with the support available is quite diverse.While medical support is frequently used and the contentment is high, other supports such as physiotherapy or psychotherapy are accessed less frequently and the contentment is lower.A high contentment is often associated with high frequency of service use, while low contentment is evenly distributed between high and low frequency of service use.

| TRANSFER AND IMPLICATIONS
What actions should be taken, according to the participants' statements: ▪ Full publicly funded healthcare.
− People with 'mild' forms of EB.
▪ Disability parking badges for EB patients (support for obtaining the badge).
▪ Psychological support for EB patients and their relatives.
▪ More awareness among the general public and healthcare professionals.
Our results showed that the vast majority of EB patients and their relatives highly appreciate the support they receive from medical service providers and institutions, especially the regular support from health care providers and by DEBRA Ireland.However, due to the financial burden of EB, the majority of patients and relatives have expressed a need for financial support from the state.Psychological support is central for dealing with the multifaceted psychosocial impact of EB.However, our quantitative data show that adequate psychological counselling is not so easy to find: Whereas 61% of our participants are very satisfied or satisfied with their psychological care, 39% indicate to be rather not or not satisfied.
Nevertheless, both the patients as well as their relatives articulate the wish for professional psychological or psychotherapeutic support, ideally linked to the medical care.Whether this may take place on a one-time or regular basis, in specialised facilities or in private practice, important in this matter are destigmatisation, accessibility and affordability.
Psychological help for all the family from birth.
(1765, Pos. 3) More support for grandparents and extended family that are heavily involved in care.Psychological support for EB patient is non-existent, they need more help.
(2123, Pos. 3) Psychological and mental health therapy for parents of children with a terminal diagnosis.
Our children were completely cared for by hospital and carers, but us as their primary carers did not find as much support, particularly in the dealing with our anxieties and general mental health.
(1766, Pos.Several participants expressed their wish for more awareness among the general public and by healthcare professionals.For the general public, one could consider public awareness campaigns like the successful poster campaigns in Austria 51 or the ALS ice bucket challenge. 52For daily interactions with people who have no or not sufficient knowledge of EB, it could be helpful to provide the EB patients and their families with structured communication skills on how to explain EB. 53 For more awareness about EB in the medical field, specialised EB trainings should be offered to healthcare

| CONCLUSION AND OUTLOOK
The findings of the current survey highlight the importance of considering both the burdens associated with EB and the helpful practices in dealing with this rare disease to improve the quality of life of EB patients and their family members.Our findings can be used as a basis for the development of targeted psychosocial intervention programmes for EB patients as well as for their relatives in Ireland, to strengthen existing resources and to develop strategies for a life with EB.
For a description of the patient organisation DEBRA Ireland and their services, please visit https://www.debra.ie.calculated.Due to the open online survey and the recruitment via stakeholders, no exact participation ratio can be calculated.To evaluate the relation between dichotomous and continuous variables, point-biserial correlations were calculated.For group comparisons, nonparametric U-tests and Kruskal-Wallis tests were applied.To counterbalance missing data and include as much collected data as possible, calculations for questionnaires were based on average scores instead of sum scores.A significance level of 5% was assumed for all statistical calculations.The statistical software program SPSS, version 27, was used to analyse the collected data.

, Pos. 3 )
Reduced mobility because of EB also has an impact on the quality of life.Patients with restricted mobility had significantly more medical symptoms than those who were not limited (iscorEBp: U = 263.50,z = −1.99,p = .046)and they and their relatives were less satisfied with life (ResILL-EB Satisfaction scale: U = 513.50,z = 2.59, p = .010;SWLS scale: U = 468.50,z = 3.49, p < .001).Patients whose legs/feet and hands were affected by EB and their relatives scored significantly lower on the resources scale than those who reported none or hardly any mobility restrictions (U = 503.50,z = 2.42, p = .015).
Abbreviations: BRS, Brief Resilience Scale; EB-BoD, Epidermolysis Bullosa Burden of Disease; F-SozU, Perceived Social Support Questionnaire; iscorEB, Instrument for Scoring Clinical Outcomes of Research for Epidermolysis Bullosa; QOLEB, Quality of Life in Epidermolysis Bullosa; ResILL-EB, Resources for Life with an Illness for Epidermolysis Bullosa; SWL, Satisfaction with Life Scale.

I 3 . 6 |
got sick once for 2 days, I was on bed rest due to exhaustion.(1942, Pos. 3) I have a breakdown and struggle for a couple of days.(1766, Pos. 4) I breakdown and cry.I feel awful and frustrated and in pain and useless.I wish my skin would be different.I feel unlucky to have EBS as other siblings don't.I feel embarrassed when I can't walk or have to avoid certain activities.I gain weight as I can't exercise and comfort eat.(2562, Pos. 4) I need to take a day to myself.(2015, Pos. 5) I just want to lie on the couch and sleep the throbbing & burning foot pain away.(2789, Pos. 6) I shut down for days, ignore everyone and cry in frustration in my room until I physically feel better.I try to distract myself mostly but sometimes it's just frustrating and upsetting to have a bad day with EB. (715, Pos. 1) Resources, support and contentment Concerning personal and social resources, statistical analyses found significant results for satisfaction, helpful practices and social support.Satisfaction in relation to quality of life as measured by the ResILL-EB Satisfaction scale was found to be lower in participants who experienced an acute challenging phase at the time point of the survey than those who did not (U = 178.00,z = −2.31,p = .021).With regard to helpful practices, participants who stated that their or their family member's EB was very to somewhat visible had developed more ways to deal with EB (H(2) = 9.37, p = .025),the same applies to female relatives in comparison to male (U = 25.00,z = −2.23,p = .026).Finally, participants who were in a relationship with a partner F I G U R E 2 Frequency of use of medical service providers or institutions and contentment.SALAMON et al. | 9 of 15 The information provided by the different institutions/healthcare professionals is highly valued, too: DEBRA Ireland support group.Important because it gave emotional support, access to clinicians and up-todate research info.(2196, Pos. 6) DEBRA Ireland are excellent in keeping us up-to-date with ongoing research developments and any other queries we may have from time to time.(2306, Pos. 4) Being kept in the loop on updates in research and development.Often we only hear about new developments when we go for our appointment once a year or once every two years as it is now.(1974, Pos. 5) However, two subgroups are less frequently receiving support and advice, are less content, and repeatedly expressed the wish for more targeted support, namely people with rather mild forms of EB and adult patients.EB simplex being seen as a life-impacting condition in its own right, rather than just 'oh you have EB … but it's not dystrophic'.(2789, Pos. 5) There has been no EB specialist in adult services in Ireland for a long time now […] This has compounded my feelings of isolation.(2831, Pos.2)Participants with more medical symptoms and a higher burden engaged more frequently and regularly with the diverse service providers or institutions.The frequency of the overall support correlated significantly with the iscorEB scale (r pb = 0.441, p = .001)and the ResILL-EB Burden scale (r pb = 0.432, p = .001).Significant differences between the participants who received regular support and the ones with hardly any support were found on the iscorEB scale (U = 539.00,z = 2.67, p = .008)as well as on the ResILL-EB Burden scale (U = 493.50,z = 2.51, p = .012).Participants with more medical symptoms and fewer resources tend to seek psychological or psychotherapeutic support more frequently (iscorEB scale: U = 374.00,z = 2.37, p = .018and ResILL-EB Resources scale: U = 84.00,z = −2.99,p = .003).

3 )
Clinical psychology to provide 1:1 psychotherapy should be freely available and linked to the treating team (if I had one!) so that the person providing psychotherapy can liaise with the medical team in relation to management and prognosis.(2831, Pos. 3) Due to the complexity of EB, psychological guidance for people with EB and their relatives needs specific training.Further research and practical recommendations on how to strengthen personal resources in a context of EB would be helpful to better support EB patients and their relatives in Ireland.

Pos. 7 )
professionals.Lack of understanding of EB by family and general public.Important as it makes it isolating.(2350, Pos. 3) Education programmes for family members.(2417, Lack of treatment and lack of specialised clinical care because it is frustrating for me and my family.(2196, Pos. 4)

1
Sociodemographic characteristics of the patients and relatives.
Frequency of overall support use and contentment.